SGCB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SGCB wild-type allele is located in the vicinity of 4q12 and is approximately 18 kb in length. This allele, which encodes beta-sarcoglycan protein, plays a role in the stablilization of muscle fiber membranes. Mutations in the gene are associated with autosomal recessive limb-girdle muscular dystrophy-4 (limb-girdle muscular dystrophy type 2E).

**Synonyms:** - A3b - Beta-Sarcoglycan(43kD Dystrophin-Associated Glycoprotein) Gene - Dystrophin-Associated Glycoprotein, 43-kD Gene - LGMD2E - LGMDR4 - Limb Girdle Muscular Dystrophy 2E (Non-Linked Families) Gene - SGC - Sarcoglycan Beta wt Allele - Sarcoglycan, Beta (43kDa Dystrophin-Associated Glycoprotein) Gene - Sarcoglycan, Beta Gene